Chantal Thys

Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome

Cornelis A. Albers, Dirk S. Paul, Harald Schulze et al. · Nature Genetics · 2012 · 419 citations

Compound Inheritance, Mendelian Disorder, Genetic Disorder +8

Platelet characteristics in patients with X-linked macrothrombocytopenia because of a novel GATA1mutation

Kathleen Freson, Koenraad Devriendt, Gert Matthijs et al. · Blood · 2001 · 230 citations · Full text

Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders

Kate Downes, Karyn Mégy, Daniel Duarte et al. · Blood · 2019 · 210 citations · Full text

A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss

Simon Stritt, Paquita Nurden, Ernest Turro et al. · Blood · 2016 · 154 citations · Full text

A dominant gain-of-function mutation in universal tyrosine kinase <i>SRC</i> causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies

Ernest Turro, Daniel Greene, Anouck Wijgaerts et al. · Science Translational Medicine · 2016 · 142 citations · Full text